Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		1 51 1 1.00 4 7.7E-02
CUI: C1851430
Disease: Subcortical white matter calcifications
Subcortical white matter calcifications 		1 0 1 1.00 0 0
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications 		1 0 1 1.00 0 0
CUI: C1859224
Disease: Second metatarsal posteriorly placed
Second metatarsal posteriorly placed 		1 0 1 1.00 0 0
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1 		1 5 1 1.00 4 0.67
CUI: C4024826
Disease: Pigmentation anomalies of sun-exposed skin
Pigmentation anomalies of sun-exposed skin 		1 0 1 1.00 0 0
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11 		1 6 1 1.00 4 0.57
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		2 0 1 0.50 0 0
CUI: C1857638
Disease: Patchy demyelination of subcortical white matter
Patchy demyelination of subcortical white matter 		2 0 1 0.50 0 0
CUI: C1859223
Disease: Deep longitudinal plantar crease
Deep longitudinal plantar crease 		2 0 1 0.50 0 0
CUI: C2674950
Disease: LUNG CANCER, SUSCEPTIBILITY TO
LUNG CANCER, SUSCEPTIBILITY TO 		2 3 1 0.50 1 0.14
CUI: C4025648
Disease: Abnormal peripheral myelination
Abnormal peripheral myelination 		2 0 1 0.50 0 0
CUI: C0239761
Disease: Gonadal hypoplasia
Gonadal hypoplasia 		3 0 1 0.33 0 0
CUI: C1857651
Disease: Ivory epiphyses of the phalanges of the hand
Ivory epiphyses of the phalanges of the hand 		3 0 1 0.33 0 0
CUI: C2242574
Disease: Compulsive sexual behaviour
Compulsive sexual behaviour 		3 0 1 0.33 0 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		4 0 1 0.25 0 0
CUI: C1857645
Disease: Slender nose
Slender nose 		4 0 1 0.25 0 0
CUI: C1857707
Disease: Increased cellular sensitivity to UV light
Increased cellular sensitivity to UV light 		4 0 1 0.25 0 0
CUI: C4025610
Disease: Peripheral dysmyelination
Peripheral dysmyelination 		4 0 1 0.25 0 0
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		6 0 1 0.17 0 0
CUI: C1837767
Disease: Loss of facial adipose tissue
Loss of facial adipose tissue 		6 0 1 0.17 0 0
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders 		7 0 1 0.14 0 0
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		7 58 1 0.14 4 6.8E-02
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders 		7 0 1 0.14 0 0
CUI: C0312420
Disease: Hypersexuality state
Hypersexuality state 		8 0 1 0.12 0 0